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Article

Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies.

Ophthalmic genetics - 1 Dec 2010

Bosley Thomas M, Abu-Amero Khaled K

Abstract excerpt

PURPOSE: The high mutation rate in the mitochondrial genome makes it difficult to be certain about mtDNA pathology, and yet we now recognize several primary and provisional Leber hereditary optic neuropathy (LHON) mutations (which are commonly pathologic) and a larger number of secondary LHON mutations (which are often associated with certain primary LHON mutations and may contribute to pathogenicity),...

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Identifiers

PMID: 21067478
DOI: 10.3109/13816810.2010.514015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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